ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8568G>C (p.Glu2856Asp)

dbSNP: rs878853610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776844 SCV002013731 uncertain significance not provided 2021-01-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 8796G>C
Labcorp Genetics (formerly Invitae), Labcorp RCV002034526 SCV002140051 uncertain significance Hereditary breast ovarian cancer syndrome 2021-08-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 2856 of the BRCA2 protein (p.Glu2856Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function.
Revvity Omics, Revvity RCV001776844 SCV003830140 uncertain significance not provided 2023-01-13 criteria provided, single submitter clinical testing

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